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Our son, Ethan, was diagnosed with peroxisomal biogenesis disorder - zellweger spectrum disorder (PBD-ZSD), a very rare genetic disease, when he was just four weeks old. There is no cure for PBD-ZSD and treatment is symptomatic. This is our PBD-ZSD journey.

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It could happen to you.....

I've written about carrier testing before, but some recent conversations I've been part of have caused me to want to write about it again. I also want to talk more about the need for additional newborn screenings, but that will wait for now.

As you know, for Ethan to have PBD, Jeff and I had to both be carriers. We'd never heard of PBD before and as healthy carriers with no family history of anything nasty like this - we thought (like most people) that we'd have healthy, typically developing kiddos (just like everyone else). I mean we are healthy, don't drink, smoke, do drugs and I began taking prenatal vitamins once we decided we'd start "trying" for a family, etc. But, we were like millions of other healthy parents who were taken by surprise when our child was born with a life-threatening (terminal) genetic disorder. Did you know that more than 80% of children born with genetic illness that are passed down from carrier parents, lack a family history of that disease? (www.counsyl.com).

Carrier testing can't test everything, and some genetic disorders "just happen" and there is no way to have a 100% guarantee of a healthy, "normal," child, but carrier testing can reduce the risk by letting you know prior to pregnancy if you and your spouse are carriers of some nasty genetic disorders.

So, what are the carrier rates for some of the "common" genetic disorders? Here they are by ethnicity according to www.counsyl.com:

Pretty scary stuff, huh? So, if you are considering having a child, even if you have already had a healthy child before, you may want to consider talking to your doctor about carrier testing prior to pregnancy. There are different tests available, and you should do your research as well as talk to your doctor, but I'd recommend looking into the Counsyl test which screens for targeted mutations in more than 100 serious genetic diseases.

I know that not everyone will agree with me about carrier testing, and please don't take this post to mean that I regret having Ethan or that I have more faith in science than I do God, because that isn't the case. However, looking back - if we had known about carrier testing and had had it done, it would have told us that Jeff was a carrier for a PEX 1 mutation. Since the test doesn't screen for my particular mutation which is not a common mutation, our risk would have still be considered pretty low but we would have known there was a possibility. We would have been able to discuss and investigate possible further carrier testing, or even other options for planning a family.

We love Ethan with all our hearts, and believe that God has a purpose for our son and for us. However, this journey is not one that anyone should have to be on. No one wants to hear that your child (or anyone you love for that matter) has a disease that there is no cure for or that there is no more treatment options for, etc.

Prayer requests

Pray for comfort and peace for families who have loved ones who are facing life-threatening medical issues. Pray that they will feel God's presence and that they will hold on to the hope that only He can give.

Pray for those whose arms and hearts ache for loved ones who have died. Pray that the Lord would give them the strength, comfort and peace.

Pray for miracles! Pray for healing! Pray for medical breakthroughs! I am a firm believer that the Lord often uses medicine and doctors to heal and bring Him glory.

Pray for Ethan to continue to grow and develop. Pray that he will remain healthy and happy. Pray that he will continue to learn about the world around him and always know that he is loved very much.

Pray that the Cystadane is working. Ethan will have blood work at the end of April that should let us know if it is having any impact -- hard to believe he's been on the medicine for almost six months.

Pray for the future of a larger official Cystadane trial as well as any other future clinical trials that could lead to treatments or even a cure to PBD.

Pray for us to have the wisdom, strength, and patience needed to be the parents that Ethan needs.

Pray for us and all families facing tough decisions about how to someday build their family in the aftermath of a genetic diagnosis like PBD or if they learn that they are both carriers of some other nasty genetic disorder.

Pray for the many upcoming fundraising events around the country being held for the Global Foundation for Peroxisomal Disorders. Pray for our Pancakes for PBD event on May 5th - our goal between the breakfast and our letter campaign is to raise $1,000.

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The geneticist believes that Ethan’s is at the moderate/mild side of the PBD-ZSD spectrum – but there isn't anyway to really tell where Ethan's PBD-ZSD journey is taking us. Both of Ethan's gene mutations have been found, but even this can't tell us exactly what Ethan's life will be like. Only the Lord knows what the future holds for our little man.